ClinVar

NM_000478.6(ALPL):c.212G>A (p.Arg71His)

Gene:

ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21561127 (on Assembly GRCh38)
• Chr1: 21887620 (on Assembly GRCh37)

Preferred name:

NM_000478.6(ALPL):c.212G>A (p.Arg71His)

HGVS:

• NC_000001.11:g.21561127G>A
• NG_008940.1:g.56763G>A
• NM_000478.6:c.212G>AMANE SELECT
• NM_001127501.4:c.47G>A
• NM_001177520.3:c.66+382G>A
• NM_001369803.2:c.212G>A
• NM_001369804.2:c.212G>A
• NM_001369805.2:c.212G>A
• NP_000469.3:p.Arg71His
• NP_001120973.2:p.Arg16His
• NP_001356732.1:p.Arg71His
• NP_001356733.1:p.Arg71His
• NP_001356734.1:p.Arg71His
• NC_000001.10:g.21887620G>A
• NM_000478.4:c.212G>A

This HGVS expression did not pass validation

Protein change:

R16H

Links:

dbSNP: rs121918003

NCBI 1000 Genomes Browser:

rs121918003

Molecular consequence:

• NM_001177520.3:c.66+382G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000478.6:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127501.4:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369803.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369804.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369805.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1